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Stargardt DiseaseProgStar-4NCT02410122

The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular Dystrophy

An observational study of Stargardt Disease, run by Johns Hopkins University at 5 sites in 3 countries.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

While a fair amount of clinical data on Stargardt disease type 1 (STGD1) have been published, very little is known about Stargardt disease type 4 (STGD4). The ProgStar 04 study is an important opportunity to leverage the infrastructure, clinical trials sites, methods, and central reading center of the ProgStar program… Read more about this study

Who is it for?
Ages 6 years and older
Conditions the study is for
Stargardt Disease
How many people
15 participants
Where
5 sitesin 3 countries
Study dates
Dec 2014to Mar 2018
Phase
Observational
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 6 years and older
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

Study population: The study shall enroll participants with PROM1 mutations and associated STGD4 phenotype at up to 10 clinical sites.

Who may be able to join

  • Provide a signed informed consent form and authorization allowing the disclosure and use of protected health information.
  • The designated primary study eye must have at least one well-demarcated area of atrophy. The lesion size should not exceed the area to be tracked in the OCT mode (20x20 degrees).
  • Have at least one pathogenic mutation confirmed in the PROM1 gene and a Stargardt phenotype.
  • The primary study eye must have clear ocular media and adequate pupillary dilation to permit good quality FAF and sd-OCT imaging in the opinion of the investigator.
  • Be able to cooperate in performing the examinations.
  • Be willing to undergo ocular examinations once every 6 months for up to 24 months.
  • Be at least six years old.
  • Both eyes can be included if inclusion criteria are fulfilled for both eyes.

Who cannot join

  • Ocular disease, such as choroidal neovascularization, glaucoma and diabetic retinopathy, in either eye that may confound assessment of the retina morphologically and functionally.
  • Intraocular surgery in the primary study eye within 90 days prior to baseline visit.
  • Current or previous participation in an interventional study to treat STGD such as gene therapy or stem cell therapy. Current participation in a drug trial or previous participation in a drug trial within six months before enrollment. The use of oral supplements of vitamins and minerals are permitted although the current use of Vitamin A supplementation shall be documented.
  • The site Principal Investigator may declare any patient at their site ineligible to participate in the study for a sound medical reason prior to the patient's enrollment into the study.
  • Any systemic disease with a limited survival prognosis (e.g. cancer, severe/unstable cardiovascular disease).
  • Any condition that would make adherence to the examination interfere with the patient attending their regular follow-up visits schedule of once every 6 months for up to 24 months difficult or unlikely, e.g. personality disorder, use of major tranquilizers such as Haldol or Phenothiazine, chronic alcoholism, Alzheimer's Disease or drug abuse.
  • Evidence of significant uncontrolled concomitant diseases such as cardiovascular, neurological, pulmonary, renal, hepatic, endocrine or gastro-intestinal disorders.
  • Patient is known to have one or more pathogenic mutation(s) in the ABCA4, RDS, or ELOVL4 genes.

Trial locations and contacts

5 sites in 3 countries.

5 sites in 3 countries

United States2 sites

  • Wilmer Eye Institute

    Baltimore, Maryland, 21287

  • Retina Foundation of the Southwest

    Dallas, Texas, 75231

Other trials in United States

Germany2 sites

  • Universitäts-Augenklinik Bonn

    Bonn, 53127

  • Center for Opthalmic Research, University of Tuebingen

    Tübingen, 72076

Other trials in Germany

United Kingdom1 site

  • Moorfields Eye Hospital

    London, EC1V 2PD

Other trials in United Kingdom

About this study

Official title: The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4 (STGD4): A Prospective Longitudinal Observational Study of Stargardt Disease Type 4, a PROM1- Related Macular Dystrophy

While a fair amount of clinical data on Stargardt disease type 1 (STGD1) have been published, very little is known about Stargardt disease type 4 (STGD4). The ProgStar 04 study is an important opportunity to leverage the infrastructure, clinical trials sites, methods, and central reading center of the ProgStar program to investigate the progression of STGD4 and will help to establish patient cohorts worldwide for future clinical trials.

Read the detailed description

The PROM1 gene codes a protein called Prominin 1 (PROM1; also known as CD133 and AC133), most known for its original use as a human stem cell-specific marker. In the retina, PROM1 is involved in the formation and organization of disks within the outer segment (OS) of the photoreceptors. It is within this particular region that most of the electrochemical signals in response to light are generated (visual cycle-phototransduction). In STGD4, mutations in the PROM1 gene result in a defective isoform of the PROM1 protein that becomes trapped in the myoid region of the photoreceptors and cannot migrate to the OS site where disks are formed. Ultimately, the absence of PROM1 in the OS affects the growth and organization of the disks, which leads to disk malfunction and to vision problems.

Although many advances in genetic science have helped to recognize this variant of STGD, a comprehensive description of the natural history, including the variability in cone and rod dysfunction, of this STGD variant is not available. While there is no known treatment for STGD at this time, the preparation for future therapeutic approaches and for planning clinical trials must include an understanding of the disease itself, its variability, its progression and its correlation with visual loss. Moreover, clinical trials that aim to slow down the progression and/or to restore vision require validated outcome measures to prove treatment efficacy. However, such outcomes have not been established for STGD overall.

In summary, the characterization of STGD4-specific clinical manifestations, progression and prognosis as well as identification of outcome measures for clinical trials are critical to develop new clinical trials for STGD4. Hence, ProgStar 4 is developed as a prospective longitudinal observational study of patients with mutations in the PROM1 gene and a phenotype consistent with STGD.

Medical subject headings
Stargardt Disease

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Growth of atrophic lesions as measured by fundus autofluorescence (FAF) imaging

    Measured: 24 months

Secondary outcomes (9)

  1. Growth of atrophic lesions as measured by fundus autofluorescence (FAF) imaging

    Measured: 12 months

  2. Rate of retinal thinning and photoreceptor loss as measured by spectral domain optical coherence tomography (sd-OCT)

    Measured: 12 months

  3. Rate of retinal thinning and photoreceptor loss as measured by spectral domain optical coherence tomography (sd-OCT)

    Measured: 24 months

  4. Loss of retinal sensitivity as measured by microperimetry

    Measured: 12 months

  5. Loss of retinal sensitivity as measured by microperimetry

    Measured: 24 months

  6. Change in best-corrected visual acuity by using the Early Treatment Diabetic Retinopathy Study (ETDRS) protocol

    Measured: 12 months

  7. Change in best-corrected visual acuity by using the Early Treatment Diabetic Retinopathy Study (ETDRS) protocol

    Measured: 24 months

  8. Correlation of all outcome measures with genetic profile

    Measured: 12 months

  9. Correlation of all outcome measures with genetic profile

    Measured: 24 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted7 Apr 2015 (estimated)
  2. Study startDec 2014
  3. Primary completionMar 2018
  4. Study completionMar 2018

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
15 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT02410122
Sponsor's protocol ID
NA_00092688
Acronym
ProgStar-4
Status last verified
Aug 2018
First submitted
5 Mar 2015
Last updated
3 Aug 2018
Results posted
No
Data monitoring committee
No
Individual data sharing
No

Questions about this trial

What is this clinical trial studying?

An observational study of Stargardt Disease, run by Johns Hopkins University at 5 sites in 3 countries.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 8 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 3 Aug 2018. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 5 sites in United States, Germany, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Growth of atrophic lesions as measured by fundus autofluorescence (FAF) imaging (time frame: 24 months). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT02410122.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Aug 2018.

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