U.S. Cysteamine Eye Drop Development
(The following document is courtesy of Sigma-Tau Pharmaceuticals)

During the National Organization of Rare Disorders (NORD) Annual Awards Banquet in the Spring of 1995, Mr. Ken Mehrling, Chief Operating Officer of Sigma-Tau Pharmaceuticals, Inc., learned of Nord's search through Ms. Abbey Meyers, President of NORD, for a commercial developer of cysteamine hydrochloride ophthalmic drops for the treatment of corneal cystine crystal accumulation currently provided under an Investigational New drug Exemption (IND) by the NIH. Cysteamine ophthalmic drops is the only available treatment for approximately 300 nephrotic cystinosis patients who suffer with painful corneal erosions, This investigational product was created by the Eye Institute (NEI) & National Institute of Child Health Development (NICHD) of the NIH.

Mr. Mehrling agreed to work with NORD and the NIH in bringing this product to the US market place. The National Organization for Rare Disorders is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service. Through NORD, Sigma-Tau Pharmaceuticals, Inc. has established the NORD/Sigma-Tau Drug Assistance program to assist eligible financially needy patients to obtain the drug Carnitor, a metabolic drug for use in Carnitine deficiency.

Sigma-Tau Pharmaceuticals, Inc. recognized that the following steps would be necessary to bring cysteamine eye drops to market:

     1. Obtaining orphan drug designation.

     2. Commercial formulation development to obtain a room temp/refined storage product supported by stability studies, preclinical safety and clinical safety and efficacy studies in the to be developed commercial formulation to be incorporated via amendments to the NIH IND held by Dr. William Gahl of the NICHD on the current NIH formulation.

     3. Submission of a New Drug Application (NDA) for approval to market a commercial cysteamine eye drop formulation meeting FDA requirements for safety and efficacy.

For those who are unfamiliar with the term orphan drug designation, on January 4, 1983 the president signed the Orphan Drug Act which established for the first time a federal government policy to cooperate and assist in a program to facilitate the development of drugs for rare diseases. The act provided important new incentives designated to encourage sponsors to develop drugs without commercial value.

In order to qualify for orphan drug status in the development of a drug, the rare disease must affect less than 200,000 people in the United States. A drug for such a disease or condition will be recovered from sale in the U.S. Upon FDA approval of a NDA, an orphan drug receives seven years of exclusive marketing rights for the specific disease indication.

In working with the NIH we learned that cysteamine hydrochloride active ingredient was no longer available to the NIH from their current source. In light of this, in the summer of 1995, we began a worldwide search for cysteamine active ingredient suitable for pharmaceutical use.

Over a dozen firms were identified as possible sources. However, with the exception of one, the companies were not interested because of the low commercial value of producting small quantities of raw material.

Fortunately, in early 1996 Farchemia located in Treviglio, Italy and a division of Tessenderlo Chemie Brussels, Belgium, a major European chemicals group, agreed as a humanitarian effort to develop pharmaceutical grade cysteamine hydrochloride in the quantities necessary to meet investigational and commercial needs for cystinosis patients being treated for corneal crystal accumulation.

With Farchemia's commitment to provide active ingredient to both Sigma-Tau and the NIH, we contracted with Hi-Tech Pharmaceutical, Amityville, NY, an ophthalmic solution manufacturer, to develop a stable commercial formulation of cysteamine eye drops.

According to the NIH, their formulation, cysteamine hydrochloride 0.55%, is stable one week at room temperature, two weeks under refrigeration, and for eighteen months frozen. The current NIH formulation is composed of a sterile solution of cysteamine HCI 0.55% w/v with benzalkonium chloride and sodium chloride.

Hi tech developed a new formulation which retains cysteamine as the free thiol in stable form for seven (7) months at room temperature and up to twenty four (24) months under refrigeration. The formulation consists of Cysteamine HCI, Monosodium Phosphate, Anhydrous, Disodium EDTA, Benzalkonium Chloride, and Carbon Dioxide Free Purified Water (pH 4.10-4.50).

Sigma-Tau Pharmaceuticals, Inc. met with FDA's Office of Orphan Drug Products in the summer of 1996 on our progress with the active ingredient search and the search for a firm to develop a commercial formulation. During the meeting and also at the 1997 cystinosis conference in San Diego we were made aware of the opportunity to apply for an orphan grant for the upcoming clinical studies on the new formulation.

In May of 1997 we submitted an application for Orphan Drug Designation for cysteamine hydrochloride in the treatment of corneal cystine crystal accumulation in cystinosis patients. Orphan Drug Status was granted August 1997.

Our next step was for the manufacture of scaled up batches of the Hi-tech formulation for the purpose of testing the product for eye irritation in rabbits and eventually, for evaluation in clinical trials in humans.

A 30 day ocular safety study in rabbits was completed by Toxikon contracted by Sigma-Tau. The test article was evaluated for its potential to produce ocular irritation after sustained use (2 drops per hour for 8 consecutive hours/day) over a 30 day period. No lesions were noted in any of the treated or control eyes of any of the animals at any of the observation points Based on the evaluation criteria of the protocol, the test article, Cysteamine Hydrochloride Eye Drops, was considered to be a non-irritant to the ocular tissue of albino rabbits, under the experimental conditions employed.

On the basis of these results, the way was cleared for testing of the new formulation from Hi-Tech in patients to show equivalence in terms of clinical efficacy and safety between the NIH and the new formulation.

Sigma-Tau sponsored a study to evaluate the safety and efficacy of this new preparation in humans in a multicenter clinical trial based on Protocol 98-EI-0109 developed by NEI Clinical Center of the NIH. This protocol was established in two components; one to access safety and one to access efficacy. As part of the clinical program development, the new formulation prepared by Hi-Tech was evaluated for safety in 20 current NIH patients and for efficacy in 16 new patients.

The primary objective of the safety study was to estimate the proportion of patients experiencing a serious adverse effect (AE) in the new formulation treated eye. The primary objective of the efficacy study was to estimate the proportion of the patients with a reduction in crystal density of 1,000 unit to the eye treated with the new formulation in comparison to the old formulation. The safety and efficacy studies were conducted concurrently.

In the safety study, 20 compliant cystinosis patients already receiving the current preparation of eye drops and under follow-up at the NEI Clinical Center were randomized to the current preparation in one eye and the new preparation in the other at the time of their semi-annual ophthalmologic examination. Patients were questioned periodically by phone regarding complications, and a daily log of side effects in each individual eye was kept. The study duration was 6 months.

Results: Upon completion of the study no statistical difference was found between the two preparations in terms of safety. The most common AE's were stinging and burning.

For the efficacy study, 16 patients were randomized to the current formulation in one eye and the new preparation in the other eye. Ophthalmic evaluations, complete with corneal slit lamp examinations and standardized photographs, were performed every 3 months at the NEI Clinical Center, Ann Arbor, Michigan, and La Jolla, California. The photos were evaluated using a scale of standard crystal densities in a masked fashion at the NEI Clinical Center. The study was to be completed in one year, and the outcome was assessed by determining if the new formulation was therapeutically equivalent to the old formulation. Randomizing the different drops to the two eyes has been successfully accomplished in previous studies of 115 patients. No episodes of systemic non-adherence to the placement of the assigned drops to the assigned eye were documented.

Results: Ten of fifteen eyes receiving the current formulation experienced a 1 unit or more improvement at least once during the follow-up, whereas 3 eyes receiving the new formulation experienced an improvement of 1 unit or more during follow-up. Seven of the eyes receiving the current formulation showed an improvement of 1 unit, or more at one year, compared to 1 of the eyes receiving the new formulation (=0.04 by Fisher's Exact Test). The new formulation was not therapeutically equivalent to the old formulation in reducing corneal cystine crystal score (CCCS). The rates of ocular adverse events were similar between the two treatments.

The above clinical program was monitored and the data collected and analyzed by the EMMES Corporation. EMMES was founded in 1977 and has a 20 year history of providing monitoring, data management and statistical analysis for clinical trials sponsored by the government, industry, or universities.

Concurrent with clinical safety and efficacy studies to determine the equivalence of the Hi-Tech formulation to the NIH product, EMMES Corporation was assigned the task of data abstraction and analyzes of five clinical studies performed by NEI on the current and earlier NIH cysteamine eye drop formulations. Such documentation is to be included in the clinical section of the to be submitted NDA. These retrospective clinical studies may be summarized as follows:

     1. Study 86-EI-0062A in which 2 patients were treated with 0.1% cysteamine. There was a positive effect of cysteamine eye drops, which was very well tolerated.
     2. Study 86-EI-0006213-1 in which Nineteen (19) patients in a double masked controlled trial were treated with 0.1%cysteamine. In terms of efficacy there was a 1;0 unit decrease in Corneal Cystine Crystal Score (CCS) or failure to have a 1.0 unit increase of the baseline score was less than 1.0 CCCS. This resulted in no statistical difference (P=0.13) between treated and placebo eye. As to safety, three patients reported itching and irritation in both placebo and treated eye.

     3. Study 86-EI-00662B-2: In this double blind study 8 patients were treated with the current 0.5% strength Cysteamine. From an efficacy standpoint there was a 1.0 unit decrease in CCCS which resulted in a statistical difference (P=0.013) between treated and placebo eye. Seventeen (17) patients reported AE's with the two groups (pain and redness were the most common AE's). The rate of AE's was equal between the two groups. There was no report of photophobia or corneal erosions.

     4. Study 92-EI-0230: In this double masked study 20 patients received either 0.5% cysteamine or 0.5% cysteamine with Benzoalkonium (preservative). Both regimes were equally effective in preventing crystal formation in the one year follow-up period (patients had little crystal formation CCCS <1.0) One AE was reported occurring in both eyes (stinging and burning).

     5. Study 94-EI-0016: In this double masked study 14 patients received either 0.5% cysteamine or 0.5% cystamine. The study was stopped by the DDATA Safety review board based on the planned preliminary analysis indicating no efficacy with cystamine. Three patients reported AE's and the most common were burning redness occurring in both treatments.

In terms of pre-clinical safety studies the safety and tolerability of the NIH Cysteamine and/or Cystamine (Cysteamine disulfide) eye drops at concentrations from 0.11% up to 10% were evaluated in four different rabbit studies. The results were as follows: No sign of toxicity at the 0.5% strength. There was an initial sign of toxicity at the 1.0% strength and infiltrations and conjunctivitis were seen at the 2.0% strength.

As shown above the six month safety study (Protocol 98-EI-0109) in patients who previously received cysteamine eye drops from the NIH demonstrated no statistical difference between the NIH and Hi-Tech formulations in terms of safety. While the results of the one year efficacy study (Protocol 98-EI0109) in patients never receiving cysteamine eye drops indicated that the new (Hi Tech) formulation was effective, it was not as effective at reducing corneal cystine crystal score (CCCS) as the current NIH formulation.

In light of the results of the studies under Protocol 98-E10109, and in consideration of time and the medical necessity for a commercial form of cysteamine eye drops, our efforts are now being concentrated on commercial form of cysteamine eye drops, our efforts are now being concentrated on commercializing the current NIH formulation whose safety and efficacy are further supported by the clinical studies.

Hi-Tech Corporation has manufactured batches of the product via the NIH formula which are on stability under freezer and refrigeration conditions. Data is being generated on the chemistry manufacturing controls aspects of NIH formula by Hi-Tech to prepare for the New Drug Application (NDA) submission to the Food and Drug Administration (FDA) for approval to market the Hi-Tech prepared NIH formula eye drop. Hi-Tech currently has twelve month data to support the product under frozen storage. We await additional data from Hi-Tech to determine the appropriate expiry date for storage of product under frozen and refrigerated conditions.

Our plan for the NDA is to assemble and review available pre-clinical and clinical safety and efficacy data generated on the current NIH formulation eye drops supported by the safety and efficacy data obtained from the clinical trials (in humans) comparing the NIH formulation and the new (Hi-Tech) formulation. The chemistry manufacturing and controls (CMC) section to be included in the application will include, in addition, to the Hi-Tech CMC data on the to be marketed product (NIH formula eye drop), CMC information on the drug substance (active ingredient) from our supplier, Farchemia.

Once all of the above is collected, summarized and reviewed, we will prepare the "package insert" labeling for the product which is based on the chemistry, pre-clinical safety, clinical safety and efficacy information from development of the drug. The package insert or direction circular is the processing mechanism through which FDA and drug manufacturers communicate essential science based prescribing information to health care professionals.

Our target for submission of the NDA is 2003 and if all goes well, approval may be forthcoming in 12 months following submission. During review of the application, FDA will consider the Good Manufacturing Practices (GMP) profiles of Farchemia and Hi-Tech to determine if each meet requirements for the manufacturing/packaging of the drug substance and drug product respectively. In addition, there may be an evaluation/audit by FDA of the in house records supporting the clinical trials of the NDA.

Due to the need to store the NIH formula product under freezer conditions because of its limited stability, we are evaluating various means of distribution to assure that patients receive properly stored commercial product.

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