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Scientists launch worldwide registry to unlock rare Fat-Storage disease

NCT ID NCT02918032

Knowledge-focused Sponsor: Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study is creating an international registry for people with neutral lipid storage disease (NLSD), a rare condition where fat builds up in cells, especially affecting the heart. Researchers will collect medical history, track disease progression, and look for factors that influence survival. The goal is to better understand the disease and support future treatment development.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this registry could help identify factors that affect disease progression and point toward better management strategies for NLSD/TGCV.
What could go wrong
This is an observational registry, not a treatment trial, so it will not directly test a new therapy. Results depend on voluntary reporting and may not apply to all patients.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 120 people

The number the study aims to enrol. It can still change while the study runs.

Start date

Jan 2014

Expected to finish

Mar 2028

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Patients who are diagnosed with NLSD /TGCV (including adults only)

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Patients who are diagnosed with NLSD / TGCV Exclusion Criteria: * None

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Conditions

The condition(s) this trial relates to.

Chanarin-Dorfman Syndrome neutral lipid storage disease Neutral Lipid Storage Disease with Myopathy triglyceride deposit cardiomyovasculopathy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Neutral lipid storage disease

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    15 sites in 9 countries. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • A.C.O. San Filippo Neri Hospital

    RECRUITING

    Rome, Lazio, 00193, Italy

  • Catholic University

    RECRUITING

    Milan, Lombardy, 20123, Italy

  • Columbia University

    RECRUITING

    New York, New York, 10027, United States

  • Graduate School of Osaka University

    RECRUITING

    Suita, Osaka, 565-0874, Japan

  • Harefield Hospital

    RECRUITING

    Harefield, London, UB9 6JH, United Kingdom

  • Ludwig-Maximilians University

    RECRUITING

    Munich, Bavaria, 80539, Germany

  • Maastricht University

    RECRUITING

    Maastricht, Limburg, 6211, Netherlands

  • National Center of Neurology and Psychiatry

    RECRUITING

    Kodaira, Tokyo, 187-8551, Japan

  • New Castle University

    RECRUITING

    Newcastle upon Tyne, Tyne and Wear, NE1 7RU, United Kingdom

  • Peking University First Hospital

    RECRUITING

    Beijing, Beijing Municipality, 100034, China

  • Pitié-Salpêtrière Hospital

    RECRUITING

    Paris, Paris, 75013, France

  • Sapienza University of Rome

    RECRUITING

    Rome, Lazio, 00185, Italy

  • Stanford University

    RECRUITING

    Stanford, California, 94305-2004, United States

  • University of Graz

    RECRUITING

    Graz, Styria, 8010, Austria

  • University of Padova

    RECRUITING

    Padova, Veneto, 35122, Italy