Ended Therapeutic exploratory (Phase II) LRBA deficiency due homozygous nonsense mutations. It is a rare genetic disorder of the immune system caused by mutation in LRBA gene. This disease results in excessive number of immune cells calls lymphocytes ,autoimmunity, low levels of antibodies and recurrent infections. Excess of lymphocytes caused a variety of symptoms, the infiltration is most commun in the gut, lungs, and brain. LRBA deficiency (called LATAIE disease) may increase a person's risk of lymphoma, a type of cancer.

A single patient trial with Ataluren in one case of severe common variable immunodeficiency with autoimmunity due to homozygous stop codon mutations of LRBA

EU CTIS ID: 2024-518919-19-00

What this study is testing

a. Clinical efficacy of Ataluren in normalizing lymphoproliferative symptom of LRBA deficiency (including lymphoproliferation, chronic diarrhea and ascites) b. Clinical tolerability of Ataluren in the single LRBA deficient patient.

Therapeutic exploratory (Phase II)

A plain-language read of the study's public EU CTIS listing. The study team confirms the details.

Who can take part

You may be able to join if

Single patient protocol: LRBA deficiency to homzygous nonsense mutations

You likely can't join if

Not applicable

The study team makes the final eligibility decision.

Questions & answers

Do participants get paid in this trial?

This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.

Is it free to join, and do I need insurance?

Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.

How long does this study last?

The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.

Who can join this trial?

This study is enrolling male, 18-64 years. The study team makes the final eligibility decision.

Find trials near you

This trial is registered in the EU. Search recruiting trials near you for LRBA deficiency due homozygous nonsense mutations. It is a rare genetic disorder of the immune system caused by mutation in LRBA gene. This disease results in excessive number of immune cells calls lymphocytes ,autoimmunity, low levels of antibodies and recurrent infections. Excess of lymphocytes caused a variety of symptoms, the infiltration is most commun in the gut, lungs, and brain. LRBA deficiency (called LATAIE disease) may increase a person's risk of lymphoma, a type of cancer. - answer a few quick questions and apply in minutes.

Full record on EU CTIS

SponsorCentre Hospitalier Universitaire De Liege

Target enrollment1

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BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from EU CTIS; the study team decides eligibility.